Human Disease Ontology

Last uploaded: May 1, 2024
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Preferred Name

alpha 1-antitrypsin deficiency
Synonyms

AAT deficiency
Definitions

OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_13372
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

SNOMEDCT_US_2023_03_01:30188007

MESH:D019896

ICD9CM:273.4

UMLS_CUI:C0221757

OMIM:613490

ICD10CM:E88.01

GARD:5784

NCI:C84397
definition

A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.
has exact match

MESH:D019896
has exact synonym

AAT deficiency
has_obo_namespace

disease_ontology
id

DOID:13372
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim
label

alpha 1-antitrypsin deficiency
notation

DOID:13372
prefLabel

alpha 1-antitrypsin deficiency
subClassOf

http://purl.obolibrary.org/obo/DOID_2345
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_13372 GAMUTS SAME_URI
http://purl.obolibrary.org/obo/DOID_13372 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_13372 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_13372 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_13372 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_13372 FNS-H SAME_URI
http://www.orpha.net/ORDO/Orphanet_60 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0013282 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0013282 EFO LOOM
http://purl.bioontology.org/ontology/MESH/D019896 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.060 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_13372 DTO LOOM
http://purl.obolibrary.org/obo/DOID_13372 BAO LOOM
http://purl.obolibrary.org/obo/DOID_13372 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_13372 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_13372 FNS-H LOOM
http://www.gamuts.net/entity#alpha_1_antitrypsin_deficiency GAMUTS LOOM
http://purl.obolibrary.org/obo/OMIM_613490 CCO LOOM
http://purl.obolibrary.org/obo/NCIT_C84397 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.552.074 RH-MESH LOOM
http://purl.jp/bio/4/id/200906086448140812 IOBC LOOM
http://nanbyodata.jp/ontology/NANDO_2100174 NANDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_194 HRDO LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Alpha-1-Antitrypsin_Deficiency PEDTERM LOOM
http://purl.bioontology.org/ontology/CSP/1849-1633 CRISP LOOM
http://purl.obolibrary.org/obo/OMIT_0019865 OMIT LOOM
http://id.nlm.nih.gov/mesh/D019896 MDM LOOM
http://purl.bioontology.org/ontology/RCTV2/C376200 RCTV2 LOOM
http://purl.bioontology.org/ontology/MEDDRA/10001806 MEDDRA LOOM
http://www.gamuts.net/entity#alpha1_antitrypsin_deficiency GAMUTS LOOM
http://nanbyodata.jp/ontology/NANDO_1200755 NANDO LOOM
http://identifiers.org/omim/613490 REXO LOOM
http://identifiers.org/omim/613490 GEXO LOOM
http://identifiers.org/omim/613490 RETO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0221757 OCHV LOOM
http://purl.bioontology.org/ontology/MEDDRA/10083869 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84397 NCIT LOOM
http://www.orpha.net/ORDO/Orphanet_60 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_60 EFO LOOM
http://purl.bioontology.org/ontology/RCD/C3762 RCD LOOM
http://purl.bioontology.org/ontology/SNMI/D6-72550 SNMI LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/30188007 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/ICPC2P/T99083 ICPC2P LOOM
http://nanbyodata.jp/ontology/NANDO_2200611 NANDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039139 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C23.550.325.500.500 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_13372 NATPRO LOOM
urn:agi-folder:alpha_1-antitrypsin_deficiency BPT LOOM
http://purl.bioontology.org/ontology/ICD9CM/273.4 ICD9CM LOOM
http://purl.bioontology.org/ontology/OMIM/613490 OMIM LOOM
http://purl.obolibrary.org/obo/MONDO_0013282 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0013282 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0013282 KTAO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#21473 OCHV LOOM
http://purl.bioontology.org/ontology/ICD10CM/E88.01 ICD10CM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D019896 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C08.381.112 RH-MESH LOOM